肥大型心筋症 - MGenReviews

肥大型心筋症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47372151	47372160	CATGGGCTCTG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)	FLNC	Pathogenic/Likely pathogenic	7	128486190	128486190	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.852-2A>G	MYBPC3	Pathogenic/Likely pathogenic	11	47369032	47369032	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001458.5(FLNC):c.8107del (p.Asp2703fs)	FLNC	Pathogenic/Likely pathogenic	7	128498503	128498503	AG	A	criteria provided, multiple submitters, no conflicts	OMIM:102565.0018
single nucleotide variant	NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter)	FLNC	Pathogenic/Likely pathogenic	7	128488655	128488655	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)	TTN	Pathogenic/Likely pathogenic	2	179474028	179474028	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)	TTN	Pathogenic/Likely pathogenic	2	179453401	179453402	T	TGC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.73568del (p.Pro24523fs)	TTN	Pathogenic/Likely pathogenic	2	179437291	179437291	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter)	TTN	Pathogenic/Likely pathogenic	2	179464371	179464371	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.58568del (p.Gly19523fs)	TTN	Pathogenic/Likely pathogenic	2	179458459	179458459	AC	A	criteria provided, multiple submitters, no conflicts	-